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Rare Diseases

Chiesi is committed to helping people living with rare and ultra-rare diseases by researching and developing innovative treatments to improve patient outcomes

Please note that disease prevalence and impacts may vary; consult a healthcare provider for advice on your specific condition

Alpha-mannosidosis

Fabry disease

Nephropathic cystinosis

Beta-thalassaemia

Leber hereditary optic neuropathy

Homozygous familial hypercholesterolemia

Lipodystrophy

Epidermolysis bullosa

Alpha-mannosidosis

Alpha-mannosidosis is an ultra-rare genetic disorder caused by a change in the MAN2B1 gene.1–3 This change results in the deficiency of an enzyme called alpha-mannosidase, which is essential for breaking down many complex sugars in the body.1,2 The lack of this enzyme leads to a build-up of mannose-rich oligosaccharides, a type of carbohydrate, throughout the body and can cause various signs and symptoms.1,2

Alpha-mannosidosis is also known as:3

  • Alpha-mannosidase B deficiency
  • Lysosomal alpha-D-mannosidase deficiency
  • Mannosidosis
  • Lysosomal alpha B mannosidosis

In the UK, alpha-mannosidosis is estimated to affect 1 in 500,000 live births and there are currently approximately 30 people living with the condition.1,2

Alpha-mannosidosis can be mild (type 1), moderate (type 2) or severe (type 3), and the severity of symptoms differ between each type.

Common signs and symptoms include:1,2,4

Muscle weakness

Intellectual disability

Skeletal abnormalities

Hearing loss

Recurrent infections

Diagnosis of alpha-mannosidosis can be made based on clinical symptoms and by testing the function of the alpha-mannosidosis enzyme. Additionally, it can be diagnosed with a genetic test to check for changes in the MAN2B1 gene.2–4

It is important to note that those living with alpha-mannosidosis may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected with symptoms of alpha-mannosidosis, please speak to a healthcare professional as soon as possible to get appropriate advice.

Further support and resources

There are several organisations and charities across the UK and Ireland that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.

For resources to support you with managing your condition:

Patient Resources

If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here

Access resources

References

  1. MPS Society. Alpha-mannosidosis. Available at: https://mpssociety.org.uk/conditions/related-conditions/alpha-mannosidosis#what-causes-alpha-mannosidosis.
  2. Hennermann JB et al. Orphanet J Rare Dis 2022:17;287.
  3. Alpha-mannosidosis. Available at: https://medlineplus.gov/genetics/condition/alpha-mannosidosis/.
  4. Malm D and Nilssen Ø. Alpha-Mannosidosis. GeneReviews® [Internet]. 2021.